Annotation Detail
Information
- Associated Genes
- MAP2K1
- Associated Variants
-
MAP2K1 p.Pro124Ser (p.P124S)
(
ENST00000685172.1,
ENST00000692683.1,
ENST00000685763.1,
ENST00000307102.10,
ENST00000693150.1,
ENST00000689951.1,
ENST00000691937.1,
ENST00000686347.1,
ENST00000691576.1 )
MAP2K1 p.Pro124Ser (p.P124S) ( ENST00000307102.10, ENST00000685172.1, ENST00000685763.1, ENST00000686347.1, ENST00000689951.1, ENST00000691576.1, ENST00000691937.1, ENST00000692683.1, ENST00000693150.1 ) - Associated Disease
- RASopathy
- Source Database
- ClinVar
- Description
- NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) AND RASopathy
- ClinVar Allele ID
- 362860
- ClinVar RefSeq Alternation Syntax
- NM_002755.4:c.370C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-07-02
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001250385
- ClinVar Disease
- RASopathy
- Observed Origin Sample
- germline
Drugs